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Identification of SPAG9 as a novel JAK2 fusion partner gene in pediatric acute lymphoblastic leukemia with t(9;17)(p24;q21)
Author(s) -
Kawamura Machiko,
Taki Tomohiko,
Kaku Hidefumi,
Ohki Kentaro,
Hayashi Yasuhide
Publication year - 2015
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.22251
Subject(s) - fusion gene , cdkn2a , breakpoint cluster region , cancer research , microbiology and biotechnology , abl , biology , gene , genetics , tyrosine kinase , signal transduction
We have identified a novel SPAG9‐JAK2 fusion in a B‐cell precursor acute lymphoblastic leukemia (ALL) with t(9;17)(p24;q21) and a poor outcome, using paired‐end transcriptome sequencing. Homozygous and hemizygous deletionsof CDKN2A/2B , and hemizygous deletions of PAX5 , BTG1 , CDK6 , ADARB2 , and IKZF1 were also identified by multiple ligation‐dependent probe amplification and single nucleotide polymorphism array analyses. Having both a tyrosine kinase‐activating rearrangement and genomic lesions affecting lymphoid transcription factors suggested that the leukemia was of the Philadelphia chromosome (Ph)/ BCR‐ABL1 ‐like ALL subtype and that JAK2 inhibitors might be able to overcome this aggressive ALL with SPAG9‐JAK2 . © 2015 Wiley Periodicals, Inc.